Varaico: Literature-Extracted Genetic Variants

PCDHGA5

68 papers

RefSeq Summary

This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggestin...

Pfam Domains

Cadherin_2aa 30–112UCSCCadherin-like

Cadherinaa 138–233UCSCCadherin domain

Cadherinaa 247–338UCSCCadherin domain

Cadherinaa 352–443UCSCCadherin domain

Cadherinaa 457–553UCSCCadherin domain

Cadherinaa 578–665UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin gamma subfamily A, 5

HGNC Alias Symbols

CDH-GAMMA-A5; PCDH-GAMMA-A5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018918.3

p.E346K

c.1036G>A

Surrounding Variants

1 paper

NM_018918.3

p.V328F

c.982G>T

1 paper

NM_018918.3

p.A367V

c.1100C>T

1 paper

NM_018918.3

p.D323N

c.967G>A

1 paper

NM_018918.3

p.M317I

c.951G>A

1 paper

NM_018918.3

p.M317I

c.951G>C

1 paper

NM_018918.3

p.M317I

c.951G>T

1 paper

NM_018918.3

p.G377R

c.1129G>A

1 paper

NM_018918.3

p.G377R

c.1129G>C

1 paper

NM_018918.3

p.G299R

c.895G>A

1 paper

NM_018918.3

p.G299R

c.895G>C

1 paper

NM_018918.3

p.E290Q

c.868G>C

2 papers

NM_018918.3

p.S289L

c.866C>T